两代4名家庭成员中存在KCNQ1突变的长QT综合征和左心室心肌致密化不全。
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.
作者信息
Kharbanda Mira, Hunter Amanda, Tennant Stephen, Moore David, Curtis Stephanie, Hancox Jules C, Murday Victoria
机构信息
West of Scotland Clinical Genetics Service, Level 2A Laboratory Medicine Building, Queen Elizabeth University Hospital, 1345 Govan Road, Glasgow, G51 4TF, UK.
Royal Hospital for Children, 1345 Govan Road, Glasgow, G51 4TF, UK.
出版信息
Eur J Med Genet. 2017 May;60(5):233-238. doi: 10.1016/j.ejmg.2017.02.003. Epub 2017 Feb 27.
The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT interval and left ventricular noncompaction in association with a pathogenic mutation in KCNQ1, and discuss the potential mechanisms of this association. In conclusion, we suggest that it may be helpful to consider looking for mutations in KCNQ1 in similar patients.
长QT综合征与左心室心肌致密化不全的关联并不常见，此前仅有少数报道，且仅有1例报道的病例与KCNQ1突变有关。在此，我们展示了两代人中4名家庭成员的基因和表型数据，他们均有QT间期延长和左心室心肌致密化不全的证据，且与KCNQ1致病突变有关，并讨论了这种关联的潜在机制。总之，我们建议在类似患者中考虑寻找KCNQ1突变可能会有所帮助。
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